Novel mutation in SPTA 1 gene associated with severe hemolytic anemia

Abstract

Hereditary spherocytosis (HS), elliptocytosis (HE), and pyropoikilocytosis (HPP) are caused by mutations in the genes which encode erythrocyte cytoskeletal proteins. We report a patient with severe hemolytic anemia with a complex set of mutations, including a novel mutation predicted to cause abnormal splicing of SPTA1 gene, highlighting the utility of molecular diagnostics in patients with no identifiable family history of erythrocyte cytoskeletal disorders.